Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified

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2019-09-22
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The large number of distinct types of the Ehlers-Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification. Some of the unclassified families are apparently recessive (see 225320); some, such as that reported by Friedman and Harrod (1982), are seemingly dominant. These authors reported a mother and son with large hernias, positional foot deformities, thoracic deformity, asthma, and eczematoid dermatitis. Both had facial asymmetry, prominent nasal bridge and small jaw. The mother had severe thoracolumbar kyphoscoliosis and 'cigarette paper' scars over the legs. She died of dissecting aortic aneurysm and at autopsy had cystic medial necrosis of the aorta and myxomatous degeneration and elongation of the mitral and tricuspid valves. McKusick (1972) observed dissecting aortic aneurysm in type VI EDS (225400). Loose-jointedness, stretchable skin, Gorlin sign (tip of tongue to tip of nose) and a few papyraceous scars occurred in a man who died of dissecting aneurysm, as did his sister and mother who showed similar systemic signs.